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Variant (rsID / SNP)

rs587782549

CDH1

rs587782549 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH1. Location: chromosome 16, position 68,863,648. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CDH1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:68863648
Cytoband
16q22.1
HGVS
NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln)
Allele change
Missense_R796Q

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Hereditary diffuse gastric adenocarcinoma|Familial cancer of breast

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.